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Molecular genetics of congenital adrenal hyperplasia (21-hydroxylase deficiency): implications for diagnosis, prognosis and treatment

✍ Scribed by A Wedell

Book ID: 114811612
Publisher: John Wiley and Sons
Year: 2007
Tongue: English
Weight: 105 KB
Volume: 87
Category: Article
ISSN: 0803-5253
DOI: 10.1111/j.1651-2227.1998.tb00968.x

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We report on the prenatal diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase in 20 at-risk pregnancies (16 salt-wasting and 4 simple virilizing families). We have diagnosed 3 affected fetuses (2 males and 1 female), 3 healthy homozygotes (2 males and 1 female), and 14 healthy heterozy

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